FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2895688300> ?p ?o ?g. }

• W2895688300 endingPage "813" @default.
• W2895688300 startingPage "803" @default.
• W2895688300 abstract "Background Progressive encephalopathy, hypsarrhythmia and optic atrophy (PEHO) has been described as a clinically distinct syndrome. It has been postulated that it is an autosomal recessive condition. However, the aetiology is poorly understood, and the genetic basis of the condition has not been fully elucidated. Our objective was to discover if PEHO syndrome is a single gene disorder. Method Children with PEHO and PEHO-like syndrome were recruited. Clinical, neurological and dysmorphic features were recorded; EEG reports and MRI scans were reviewed. Where possible, exome sequencing was carried out first to seek mutations in known early infantile developmental and epileptic encephalopathy (DEE) genes and then to use an agnostic approach to seek novel candidate genes. We sought intra–interfamilial phenotypic correlations and genotype–phenotype correlations when pathological mutations were identified. Results Twenty-three children were recruited from a diverse ethnic background, 19 of which were suitable for inclusion. They were similar in many of the core and the supporting features of PEHO, but there was significant variation in MRI and ophthalmological findings, even between siblings with the same mutation. A pathogenic genetic variant was identified in 15 of the 19 children. One further girl’s DNA failed analysis, but her two affected sisters shared confirmed variants. Pathogenic variants were identified in seven different genes. Conclusions We found significant clinical and genetic heterogeneity. Given the intrafamily variation demonstrated, we question whether the diagnostic criteria for MRI and ophthalmic findings should be altered. We also question whether PEHO and PEHO-like syndrome represent differing points on a clinical spectrum of the DEE. We conclude that PEHO and PEHO-like syndrome are clinically and genetically diverse entities—and are phenotypic endpoints of many severe genetic encephalopathies." @default.
• W2895688300 created "2018-10-12" @default.
• W2895688300 creator A5006079808 @default.
• W2895688300 creator A5015615770 @default.
• W2895688300 creator A5021194007 @default.
• W2895688300 creator A5024253291 @default.
• W2895688300 creator A5035152543 @default.
• W2895688300 creator A5045272621 @default.
• W2895688300 creator A5058422534 @default.
• W2895688300 creator A5062130307 @default.
• W2895688300 creator A5082919510 @default.
• W2895688300 creator A5082973474 @default.
• W2895688300 creator A5085946462 @default.
• W2895688300 date "2018-10-04" @default.
• W2895688300 modified "2023-10-18" @default.
• W2895688300 title "PEHO syndrome: the endpoint of different genetic epilepsies" @default.
• W2895688300 cites W1926834468 @default.
• W2895688300 cites W1964914295 @default.
• W2895688300 cites W1967577775 @default.
• W2895688300 cites W1972318441 @default.
• W2895688300 cites W1974217171 @default.
• W2895688300 cites W1988340084 @default.
• W2895688300 cites W1988765445 @default.
• W2895688300 cites W1999918967 @default.
• W2895688300 cites W2008398813 @default.
• W2895688300 cites W2016211613 @default.
• W2895688300 cites W2018025327 @default.
• W2895688300 cites W2023581647 @default.
• W2895688300 cites W2029093559 @default.
• W2895688300 cites W2045706431 @default.
• W2895688300 cites W2051978340 @default.
• W2895688300 cites W2065690488 @default.
• W2895688300 cites W2067503954 @default.
• W2895688300 cites W2076571755 @default.
• W2895688300 cites W2085006816 @default.
• W2895688300 cites W2100531072 @default.
• W2895688300 cites W2102371749 @default.
• W2895688300 cites W2113980459 @default.
• W2895688300 cites W2126909734 @default.
• W2895688300 cites W2128493759 @default.
• W2895688300 cites W2156044796 @default.
• W2895688300 cites W2269722960 @default.
• W2895688300 cites W2319666711 @default.
• W2895688300 cites W2510747145 @default.
• W2895688300 cites W2512264989 @default.
• W2895688300 cites W2523685127 @default.
• W2895688300 cites W2593635866 @default.
• W2895688300 cites W2593643692 @default.
• W2895688300 cites W2607155572 @default.
• W2895688300 cites W2621240879 @default.
• W2895688300 cites W2734926083 @default.
• W2895688300 cites W2772934413 @default.
• W2895688300 cites W2800971173 @default.
• W2895688300 doi "https://doi.org/10.1136/jmedgenet-2018-105288" @default.
• W2895688300 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30287594" @default.
• W2895688300 hasPublicationYear "2018" @default.
• W2895688300 type Work @default.
• W2895688300 sameAs 2895688300 @default.
• W2895688300 citedByCount "11" @default.
• W2895688300 countsByYear W28956883002018 @default.
• W2895688300 countsByYear W28956883002020 @default.
• W2895688300 countsByYear W28956883002021 @default.
• W2895688300 countsByYear W28956883002022 @default.
• W2895688300 countsByYear W28956883002023 @default.
• W2895688300 crossrefType "journal-article" @default.
• W2895688300 hasAuthorship W2895688300A5006079808 @default.
• W2895688300 hasAuthorship W2895688300A5015615770 @default.
• W2895688300 hasAuthorship W2895688300A5021194007 @default.
• W2895688300 hasAuthorship W2895688300A5024253291 @default.
• W2895688300 hasAuthorship W2895688300A5035152543 @default.
• W2895688300 hasAuthorship W2895688300A5045272621 @default.
• W2895688300 hasAuthorship W2895688300A5058422534 @default.
• W2895688300 hasAuthorship W2895688300A5062130307 @default.
• W2895688300 hasAuthorship W2895688300A5082919510 @default.
• W2895688300 hasAuthorship W2895688300A5082973474 @default.
• W2895688300 hasAuthorship W2895688300A5085946462 @default.
• W2895688300 hasBestOaLocation W28956883001 @default.
• W2895688300 hasConcept C104317684 @default.
• W2895688300 hasConcept C10590036 @default.
• W2895688300 hasConcept C118552586 @default.
• W2895688300 hasConcept C127716648 @default.
• W2895688300 hasConcept C137627325 @default.
• W2895688300 hasConcept C142724271 @default.
• W2895688300 hasConcept C16671776 @default.
• W2895688300 hasConcept C2778186239 @default.
• W2895688300 hasConcept C2779388368 @default.
• W2895688300 hasConcept C2779888125 @default.
• W2895688300 hasConcept C2910479173 @default.
• W2895688300 hasConcept C54355233 @default.
• W2895688300 hasConcept C64618202 @default.
• W2895688300 hasConcept C69991583 @default.
• W2895688300 hasConcept C71924100 @default.
• W2895688300 hasConcept C86803240 @default.
• W2895688300 hasConceptScore W2895688300C104317684 @default.
• W2895688300 hasConceptScore W2895688300C10590036 @default.
• W2895688300 hasConceptScore W2895688300C118552586 @default.
• W2895688300 hasConceptScore W2895688300C127716648 @default.
• W2895688300 hasConceptScore W2895688300C137627325 @default.

• next